福建地区汉族人群骨保护素基因rs2073617T/C、rs2073618G/C多态性与急性冠脉综合征的相关性研究

Correlation between osteoprotegerin gene rs2073617T/C,rs2073618G/C polymorphism and acute coronary syndromes in Fujian Han population

目的探讨骨保护素(OPG)基因启动子rs2073617T/C(950T/C)和第1外显子rs2073618G/C(1181G/C)位点基因多态性在福建地区汉族人群中的分布及其与急性冠脉综合征(ACS)的相关性。方法纳入福建地区无血缘关系的汉族人720例作为研究对象,分为ACS组(n=360)和对照组(n=360),采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)技术对OPG基因950T/C和1181G/C多态性位点进行基因型分型,同时采用DNA测序对酶切产物进行鉴定。结果在福建地区汉族人群中,OPG基因950T/C多态性TC、TT、CC 3种基因型在ACS组和对照组中的频率分别为47.8%、26.7%、25.6%和43.3%、33.3%、23.3%;1181G/C多态性GG、GC、CC 3种基因型在ACS组和对照组中的频率分别为51.1%、40.0%、8.9%和60.0%、35.0%、5.0%。ACS组与对照组OPG基因950T/C、1181G/C基因型及等位基因频率分布进行比较均差异无统计学意义(P>0.05)。OPG基因950T/C、1181G/C在ACS组患者单支病变、双支病变及三支以上病变组之间比较差异无统计学意义(P>0.05)。结论福建地区汉族人群OPG 950T/C、1181G/C位点基因多态性与ACS发生无相关性。

Objective To study the genotype distribution and its association with acute coronary syndrome （ACS） of polymorphism of osteoprotegerin （OPG） gene promoter rs2073617T/C（950T/C） and the first exon rs2073618G/C（1181G/C） in Fujian Han population. Methods A total of seven hundred and twenty consecutive patients of non-consanguineous Fujian Han people with ACS were enrolled in the present study. They were divided into ACS group and control group, with 360 in each group. OPG gene 950T/C and 1181G/C were genotyped in all the patients using polymerase chain reaction restriction fragment length polymorphism （PCR-RFLP）. DNA sequences of enzyme digestion products were also analyzed. Results In Fujian Han population, the frequency of TC, TT, CC types of OPG 950T/C polymorphism in ACS patients and controls were 47.8%, 26.7% and 25.5% vs 43.3%, 33.3% and 23.3%, respectively. The frequency of GG, GC, CC types of OPG 1181G/C polymorphism in ACS patients and controls were 51.1%, 40.0% and 8.9% vs 60.0%, 35.0% and 5.0%, respectively. No significant differences were observed in the genotype and allelic frequency of OPG gene 9SOT/C and 1181G/C between the ACS and control groups. OPG gene 950T/C and 1181G/C showed no statistically significant difference between ACS patients with single-vessel, double-vessel and three or more-vessel disease. Conclusion OPG gene polymorphism of 9SOT/C and 1181G/C are not associated with ACS in Han population of Fujian.